ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.326T>A (p.Ile109Asn) (rs121908930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001532242 SCV001747713 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
OMIM RCV000006991 SCV000027187 pathogenic Deafness, autosomal dominant 9 2003-10-01 no assertion criteria provided literature only

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